Canonical Allele Identifier: CA379475177

Gene: TPP1

Linked Data

• dbSNP Id: rs587780481
• gnomAD v3: 11-6616814-G-C
• gnomAD v4: 11-6616814-G-C
• MyVariant Identifiers: chr11:g.6638045G>C (hg19) ; chr11:g.6616814G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616814G>C , CM000673.2:g.6616814G>C	GRCh38
NC_000011.9:g.6638045G>C , CM000673.1:g.6638045G>C	GRCh37
NC_000011.8:g.6594621G>C	NCBI36
NG_008653.1:g.7648C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.619C>G	ENSP00000507321.1:p.Arg207Gly
ENST00000299427.12:c.733C>G MANE Select	ENSP00000299427.6:p.Arg245Gly
ENST00000436873.7:c.312+487C>G
ENST00000524788.2:n.1892C>G
ENST00000524903.2:n.2008C>G
ENST00000528807.2:n.389C>G
ENST00000530040.2:n.480-311C>G
ENST00000533371.6:c.4C>G	ENSP00000437066.1:p.Arg2Gly
ENST00000642892.1:c.4C>G	ENSP00000494165.1:p.Arg2Gly
ENST00000643439.1:c.*473C>G	ENSP00000495849.1:n.*473C>G
ENST00000643479.1:n.762C>G
ENST00000643516.1:c.396-311C>G
ENST00000644151.1:n.2172C>G
ENST00000644218.1:c.733C>G	ENSP00000493574.1:p.Arg245Gly
ENST00000644683.1:c.*186C>G	ENSP00000494085.1:n.*186C>G
ENST00000644810.1:c.454C>G	ENSP00000495895.1:p.Arg152Gly
ENST00000644831.1:n.909C>G
ENST00000644933.1:c.4C>G	ENSP00000496133.1:p.Arg2Gly
ENST00000645020.1:n.2023C>G
ENST00000645285.1:c.4C>G	ENSP00000495058.1:p.Arg2Gly
ENST00000645331.1:n.1099C>G
ENST00000645620.1:c.4C>G	ENSP00000493657.1:p.Arg2Gly
ENST00000646777.1:n.909C>G
ENST00000647016.1:n.1213C>G
ENST00000647152.1:c.4C>G	ENSP00000495893.1:p.Arg2Gly
ENST00000647209.1:c.*602C>G	ENSP00000495558.1:n.*602C>G
ENST00000647346.1:n.1753C>G
ENST00000299427.10:c.733C>G	ENSP00000299427.6:p.Arg245Gly
ENST00000436873.6:c.451-311C>G	ENSP00000398136.2:n.451-311C>G
ENST00000524788.1:n.433C>G
ENST00000528807.1:n.283C>G
ENST00000533371.5:c.4C>G	ENSP00000437066.1:p.Arg2Gly
ENST00000611494.4:c.733C>G	ENSP00000484546.1:p.Arg245Gly
NM_000391.3:c.733C>G	NP_000382.3:p.Arg245Gly
NM_000391.4:c.733C>G MANE Select	NP_000382.3:p.Arg245Gly